Revel Score:
ENST00000397545 (MANE Select)
0.148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80097332C>G , CM000679.2:g.80097332C>G | GRCh38 |
| NC_000017.10:g.78071131C>G , CM000679.1:g.78071131C>G | GRCh37 |
| NC_000017.9:g.75685726C>G | NCBI36 |
| NG_009822.1:g.777C>G , LRG_673:g.777C>G | |
| NG_029761.1:g.65701C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.3109C>G MANE Select | ENSP00000380679.4:p.Leu1037Val | |
| ENST00000397545.8:c.3109C>G | ENSP00000380679.4:p.Leu1037Val | |
| ENST00000572253.5:n.3360C>G | ||
| ENST00000574799.5:n.2646C>G | ||
| NM_017950.3:c.3109C>G | NP_060420.2:p.Leu1037Val | |
| XM_011524963.1:c.3019C>G | XP_011523265.1:p.Leu1007Val | |
| XM_011524964.1:c.1930C>G | XP_011523266.1:p.Leu644Val | |
| XM_011524963.3:c.3019C>G | XP_011523265.1:p.Leu1007Val | |
| XM_011524964.3:c.1930C>G | XP_011523266.1:p.Leu644Val | |
| XM_024450821.1:c.3019C>G | XP_024306589.1:p.Leu1007Val | |
| XR_934495.2:n.3227C>G | ||
| NM_017950.4:c.3109C>G MANE Select | NP_060420.2:p.Leu1037Val |